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Impact of genetic variants TLR2 rs5743708 and rs3804099 on the susceptibility of individuals to severe coronavirus disease 2019 基因变异TLR2 rs5743708和rs3804099对个体对2019年严重冠状病毒病易感性的影响
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-20 DOI: 10.1016/j.genrep.2025.102384
Maryam Noroozi , Kamran Heidarnejad , Reza Shafiei , Reza Shahbazi , Kurosh Kalantar , Mona Fani
{"title":"Impact of genetic variants TLR2 rs5743708 and rs3804099 on the susceptibility of individuals to severe coronavirus disease 2019","authors":"Maryam Noroozi ,&nbsp;Kamran Heidarnejad ,&nbsp;Reza Shafiei ,&nbsp;Reza Shahbazi ,&nbsp;Kurosh Kalantar ,&nbsp;Mona Fani","doi":"10.1016/j.genrep.2025.102384","DOIUrl":"10.1016/j.genrep.2025.102384","url":null,"abstract":"<div><h3>Background</h3><div>Pattern recognition receptors (PRRs) of the innate immune system potentially detect pathogen-associated molecular patterns (PAMPs) following viral invasion. While some Toll-like receptors (TLRs) offer protection against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, various studies suggest that Toll-like Receptor 2 (TLR2) activity is linked to heightened inflammatory responses and severe disease outcomes.</div></div><div><h3>Methods</h3><div>This study investigated two TLR2 single-nucleotide polymorphisms (SNPs), rs5743708 and rs3804099, using polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) in patients with mild and severe COVID-19.</div></div><div><h3>Results</h3><div>Genotypic and allelic analyses revealed no statistically significant differences between severity groups. However, rs3804099 showed a significant association with creatinine and sodium levels in severe COVID-19 patients—creatinine differed between CT and TT genotypes, and sodium between CT and CC genotypes. Previous evidence associates this polymorphism with proteinuria after kidney transplantation, suggesting a role in renal homeostasis.</div></div><div><h3>Conclusion</h3><div>Our findings raise the possibility that rs3804099 may serve as a genetic marker for susceptibility to renal dysfunction and electrolyte imbalance during COVID-19, extending the clinical relevance of TLR2 polymorphisms beyond inflammatory signaling.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102384"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145621338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unlocking genetic insights: IL-12A gene variants rs2243115 and rs568408 and tuberculosis in the population of Punjab 解锁基因洞察:IL-12A基因变异rs2243115和rss568408与旁遮普人口中的结核病
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-14 DOI: 10.1016/j.genrep.2025.102424
Rajwinder Kaur , Anju Kumari
{"title":"Unlocking genetic insights: IL-12A gene variants rs2243115 and rs568408 and tuberculosis in the population of Punjab","authors":"Rajwinder Kaur ,&nbsp;Anju Kumari","doi":"10.1016/j.genrep.2025.102424","DOIUrl":"10.1016/j.genrep.2025.102424","url":null,"abstract":"<div><div>Tuberculosis (TB), a multifactorial infectious disease, continues to pose a major global health challenge for centuries. Genetic variations in immune-related genes, such as <em>IL-12A</em>, have been implicated in TB pathogenesis through their influence on cytokine regulation and immune responses. This case-control study aimed to assess the association of two single nucleotide polymorphisms (SNPs), <em>rs2243115 (G/T)</em> and <em>rs568408 (A/G)</em>, in the <em>IL-12A</em> gene with TB susceptibility and plasma levels of IL-12p70 in individuals from Punjab, North India. A total of 300 pulmonary TB patients and 150 age- and sex-matched healthy controls were recruited. Genotyping was performed using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method. Plasma IL-12p70 levels were quantified using enzyme-linked immunosorbent assay (ELISA).</div><div>The rs568408 A allele (<em>p</em> = 0.033) and AG genotype (<em>p</em> &lt; 0.0001) were significantly associated with increased TB risk, particularly in males (OR = 1.72, <em>p</em> &lt; 0.01), indicating a possible gender-specific genetic effect. In contrast, the rs2243115 G allele (<em>p</em> = 0.021) and genotypes GG (<em>p</em> = 0.038) and GT (<em>p</em> = 0.009) were associated with protection against TB. Interestingly, IL-12p70 levels were undetectable in both TB patients and healthy controls, which is consistent with previous studies reporting low or absent circulating IL-12p70 in peripheral blood.</div><div>These findings highlight the potential role of <em>IL-12A</em> polymorphisms in modulating TB susceptibility and reinforce the need for further validation in larger and diverse populations to support personalized intervention strategies.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102424"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146034546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapeutic targeting of glioblastoma: miRNA signatures modulated by abemaciclib 胶质母细胞瘤的靶向治疗:由阿贝马昔lib调节的miRNA特征
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-03 DOI: 10.1016/j.genrep.2025.102413
Burcu Çerçi Alkaç , Mustafa Soyöz , Tülay Kılıçaslan Ayna , Melek Pehlivan , İbrahim Pirim
{"title":"Therapeutic targeting of glioblastoma: miRNA signatures modulated by abemaciclib","authors":"Burcu Çerçi Alkaç ,&nbsp;Mustafa Soyöz ,&nbsp;Tülay Kılıçaslan Ayna ,&nbsp;Melek Pehlivan ,&nbsp;İbrahim Pirim","doi":"10.1016/j.genrep.2025.102413","DOIUrl":"10.1016/j.genrep.2025.102413","url":null,"abstract":"<div><div>Purpose Glioblastoma (GBM) is the most aggressive primary brain tumor in adults, characterized by poor prognosis and resistance to standard therapies. Cyclin-dependent kinase (CDK) inhibitors, particularly abemaciclib, have emerged as promising candidates for targeting GBM through cell cycle modulation. However, their molecular mechanisms and interactions with other chemotherapeutics remain to be fully elucidated. Methods In this study, we evaluated the effects of abemaciclib alone and in combination with doxorubicin, cisplatin, or temozolomide (TMZ) on U87 glioblastoma cells. Cell viability (WST-8 assay), wound healing, colony formation, apoptosis (Annexin V ELISA and flow cytometry), and cell cycle progression (PI staining) were assessed. Gene and miRNA expression analyses were also performed to identify mechanistic changes underlying treatment responses. Results Abemaciclib significantly reduced U87 cell viability and enhanced the cytotoxic effects of cisplatin and TMZ in combination treatments. Apoptosis assays revealed increased Annexin V levels, particularly in the abemaciclib-TMZ group. Flow cytometry confirmed G1 phase arrest in abemaciclib-treated cells, while TMZ induced G2/M arrest. Gene expression analysis showed upregulation of pro-apoptotic and cell cycle arrest genes (Casp3, Casp9, p16), and downregulation of CDK4. miRNA profiling demonstrated consistent upregulation of miR-128-3p and modulation of miRNAs linked to GBM progression, including miR-21, miR-34a, and miR-449a-3p. Conclusion Abemaciclib exerts potent anti-glioblastoma activity by modulating cell cycle, apoptosis, and miRNA expression. When combined with cisplatin or TMZ, it enhances therapeutic efficacy in U87 cells. These findings support further investigation of abemaciclib-based combination therapies as a strategy to overcome GBM resistance.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102413"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145921108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of the mitochondrial genome of Fusarium oxysporum and comparative insights into Fusarium spp. mitochondrial evolution 尖孢镰刀菌线粒体基因组的特征及其线粒体进化的比较研究
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-17 DOI: 10.1016/j.genrep.2025.102416
Fatima Malik, Mahnoor Malik, Tehsin Fatma, Muhammad Faraz Bhatti
{"title":"Characterization of the mitochondrial genome of Fusarium oxysporum and comparative insights into Fusarium spp. mitochondrial evolution","authors":"Fatima Malik,&nbsp;Mahnoor Malik,&nbsp;Tehsin Fatma,&nbsp;Muhammad Faraz Bhatti","doi":"10.1016/j.genrep.2025.102416","DOIUrl":"10.1016/j.genrep.2025.102416","url":null,"abstract":"<div><h3>Background</h3><div><em>Fusarium oxysporum</em> is an important phytopathogenic fungus causing severe vascular wilts, rots, and damping off diseases in economically important plants. Mitogenomes have a very essential role in evolutionary biology, diversity and pathogenicity of organisms. This study is focused on the characterization of the complete mitochondrial genome of <em>F. oxysporum strain P2A</em> and its comparative analysis with the previously published <em>Fusarium</em> mitogenomes. High-throughput Illumina sequencing technology enabled the complete assembly and annotation of mitochondrial genome.</div></div><div><h3>Results</h3><div>The reported <em>F. oxysporum strain P2A</em> mitogenome is composed of a circular DNA molecule with a genome size of 46,257 bp and GC content of 32.7 %. It encodes 16 protein-coding genes (PCGs), 2 ribosomal RNA (rRNA) genes, 24 transfer RNA genes and 32 open reading frames encoding hypothetical proteins. Furthermore, group IB intron encoding a homing endonuclease (LAGLIDADG) was also found in the coding region of the mitogenome, indicating its dynamic structure. Comparative mitochondrial genomic analysis with six other closely related <em>Fusarium</em> species revealed that GC content, gene length, GC skew, and AT skew varied among core PCGs. The gene synteny analysis of <em>Fusarium</em> species showed several gene rearrangements. Among the 16 PCGs, <em>nad4, nad4L, nad6</em> and <em>cob</em> had the lowest K2P genetic distance, indicating that these genes are highly conserved. Furthermore, it was observed that the majority of PCGs possessed Ka/Ks values below 1, suggesting that these genes were subjected to purifying selection. Phylogenetic analysis based on <em>cox2</em> gene revealed that <em>F. oxysporum strain P2A</em> is most closely related to <em>Fusarium verticillioids</em> in the clade containing <em>Leotiomycetes</em> species.</div></div><div><h3>Conclusions</h3><div>The complete mitogenome of <em>F. oxysporum strain P2A</em> and its comparative analysis will contribute to the fast-evolutionary analysis and population genetics studies among <em>Fusarium</em> species.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102416"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145836493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of NOS3-786T>C and Intron 4 VNTR polymorphisms with respect to acute leukaemia risk in Algerian patients 阿尔及利亚患者NOS3-786T >c和内含子4 VNTR多态性与急性白血病风险的关系分析
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-04 DOI: 10.1016/j.genrep.2025.102404
N. Benhalilou , L.M. Berkani , Z.-E.-I. Lamraoui , F. Bouldjennet , N. Cherif , Z. Kaci , S. Louahchi , C. Touil-Boukoffa , R. Djidjik , R. Raache
{"title":"Analysis of NOS3-786T>C and Intron 4 VNTR polymorphisms with respect to acute leukaemia risk in Algerian patients","authors":"N. Benhalilou ,&nbsp;L.M. Berkani ,&nbsp;Z.-E.-I. Lamraoui ,&nbsp;F. Bouldjennet ,&nbsp;N. Cherif ,&nbsp;Z. Kaci ,&nbsp;S. Louahchi ,&nbsp;C. Touil-Boukoffa ,&nbsp;R. Djidjik ,&nbsp;R. Raache","doi":"10.1016/j.genrep.2025.102404","DOIUrl":"10.1016/j.genrep.2025.102404","url":null,"abstract":"<div><div>Acute leukaemias are haematological neoplasms characterised by a steadily increasing incidence and high mortality, driven by the rapid proliferation of malignant blasts. Given that both the mechanisms of angiogenesis and the aetiology of these disorders remain poorly described and understudied in hematologic malignancies, we aimed to evaluate the potential role of polymorphisms in the endothelial nitric oxide synthase (<em>NOS3</em>) gene, both individually and in combination, on the risk and progression of acute leukaemia in Algerian patients.</div><div>To this end, we genotyped two <em>NOS3</em> gene polymorphisms: the Intron 4 b/a/c variable number tandem repeat (VNTR) polymorphism (rs61722009) and the -786 T &gt; C (rs2070744) promoter polymorphism in a cohort of 129 patients and 86 healthy controls. Genotyping was performed using agarose gel-based polymerase chain reaction PCR for VNTR polymorphism and polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) for the -786 T &gt; C variant. Statistical analyses were conducted using Fisher's exact test or the Chi-squared (χ2) test and odds ratios (OR) with 95 % confidence intervals (CI) were calculated.</div><div>Our results revealed no significant difference in allelic or genotypic frequencies of the -786 T &gt; C polymorphism between patients and controls (<em>p</em> &gt; 0.05). In contrast, the frequency of the b/b genotype and the b allele of the VNTR polymorphism was significantly lower in patients than in healthy control (<em>p</em> = 0.004, OR = 0.37 and <em>p</em> = 0.002, OR = 0.41 respectively). Conversely, the a allele was significantly more frequent in patients (<em>p</em> = 0.011, OR = 2.13). Furthermore, combined genotype and haplotype analyses showed that the multilocus genotype TC/4b4b (<em>p</em> = 0.004, OR = 0.41) was overrepresented among controls, whereas the C-4a haplotype (<em>p</em> = 0.021, OR = 3.91) was more prevalent in patients.</div><div>These findings highlight the potential role of NOS3 gene polymorphisms in susceptibility to acute leukaemia. In particular, the intron 4 b/a/c VNTR polymorphism may serve as a genetic susceptibility marker. Moreover, the C-a haplotype, formed by the -786 T &gt; C and intron 4 b/a/c variants, seems to be associated with an increased risk of disease progression, suggesting a possible synergistic effect between these polymorphisms.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102404"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deciphering functional genes and pathways associated with enzyme activity during fruiting development of Tremella fuciformis and Annulohypoxylon stygium 银耳和木耳果实发育过程中酶活性相关功能基因和途径的解读
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-11-12 DOI: 10.1016/j.genrep.2025.102382
Jia-Li Shi , Yong-Qiang Hu , Jian-Qiang Ye , Xu-Zhou Liu , Shi-Yan Wei , Li-Ying Li , Ming-Guo Jiang , Liang-Liang Qi
{"title":"Deciphering functional genes and pathways associated with enzyme activity during fruiting development of Tremella fuciformis and Annulohypoxylon stygium","authors":"Jia-Li Shi ,&nbsp;Yong-Qiang Hu ,&nbsp;Jian-Qiang Ye ,&nbsp;Xu-Zhou Liu ,&nbsp;Shi-Yan Wei ,&nbsp;Li-Ying Li ,&nbsp;Ming-Guo Jiang ,&nbsp;Liang-Liang Qi","doi":"10.1016/j.genrep.2025.102382","DOIUrl":"10.1016/j.genrep.2025.102382","url":null,"abstract":"<div><div><em>Tremella fuciformis</em> relies on the nutrient supply from its host fungus <em>Annulohypoxylon stygium</em> during development, but the molecular basis of enzyme activity in their interaction remains unclear. Here, we measured the activities of cellulase, neutral xylanase, amylase, neutral protease, and chitinase during the fruiting process. Enzyme activities showed dynamic changes, with consistently higher levels in mixed mycelium than in <em>A. stygium</em> mycelium. To explore the underlying basis, transcriptome analyses were conducted at three stages, detecting 2533, 2276, and 1326 differentially expressed genes (DEGs) in BHy_14 vs AHy_14, BHy_21 vs AHy_21, and BHy_28 vs AHy_28, respectively (BHy represents the mixed mycelia of <em>T. fuciformis</em> and <em>A. stygium</em>, while AHy represents the mycelia of <em>A. stygium</em> alone; 14, 21, and 28 represent the 14th, 21st, and 28th days of cultivation, respectively). GO and KEGG enrichment indicated that DEGs were mainly enriched in carbohydrate and amino acid metabolism pathways. Notably, the largest number of upregulated genes occurred at 21 d, suggesting this as a key stage of metabolic regulation. Ten candidate DEGs from the BHy_21 vs AHy_21 comparison were validated by qRT-PCR, showing expression patterns consistent with the transcriptome data. Overall, this study reveals the pivotal roles of carbohydrate and amino acid metabolism in <em>T. fuciformis</em>–<em>A. stygium</em> interaction, providing molecular insights into developmental regulation and cultivation improvement.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102382"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Delineating miR-126-3p, miR-223-3p, and miR-320a expression patterns with body mass index and insulin resistance in South African adults living with HIV 描述南非成年HIV感染者中miR-126-3p、miR-223-3p和miR-320a表达模式与体重指数和胰岛素抵抗的关系
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2025-12-19 DOI: 10.1016/j.genrep.2025.102412
Leegan Govender , Nasheeta Peer , Cecil J. Weale , Don M. Matshazi , Tandi E. Matsha , Collet Dandara , Andre P. Kengne
{"title":"Delineating miR-126-3p, miR-223-3p, and miR-320a expression patterns with body mass index and insulin resistance in South African adults living with HIV","authors":"Leegan Govender ,&nbsp;Nasheeta Peer ,&nbsp;Cecil J. Weale ,&nbsp;Don M. Matshazi ,&nbsp;Tandi E. Matsha ,&nbsp;Collet Dandara ,&nbsp;Andre P. Kengne","doi":"10.1016/j.genrep.2025.102412","DOIUrl":"10.1016/j.genrep.2025.102412","url":null,"abstract":"<div><h3>Background</h3><div>People living with human immunodeficiency virus (PLWH) have increased risk of weight gain, overweight, and obesity, and subsequent cardiometabolic diseases (CMDs). MicroRNAs (miRNAs) are emerging biomarkers for diabetes and obesity due to their regulatory roles in pathophysiological pathways leading to these conditions. In non-HIV populations, microRNAs (miR-126-3p, −223-3p, and -320a) have been associated with CMD risk.</div></div><div><h3>Aim</h3><div>To examine the expression patterns of targeted miRNAs (miR-126-3p, −223-3p, and -320a) with overweight/obesity status in PLWH in South Africa.</div></div><div><h3>Methods</h3><div>This cross-sectional study included ≥18-years-old PLWH, from 17 HIV clinics that provided antiretroviral care in the Western Cape between 2014 and 2015. Body mass index (BMI) &lt;25 kg/m<sup>2</sup> is defined as normal/underweight, BMI between ≥25 kg/m<sup>2</sup> and &lt; 30 kg/m<sup>2</sup> is defined as overweight, and BMI ≥30 kg/m<sup>2</sup> is defined as obesity. Whole blood miRNAs were isolated and quantified by reverse transcription polymerase chain reaction with small nucleolar RNA, C/D box 84 (SNOR D48) endogenous control used for normalisation. Statistical analyses used R software, with <em>p</em>-value&lt;0.05 characterising significant results.</div></div><div><h3>Results</h3><div>Overall, all three target miRNAs were significantly but weakly correlated with fasting glucose (all, <em>p</em> &lt; 0.046), fasting insulin (all, <em>p</em> &lt; 0.015), and homeostatic model assessment-estimated insulin resistance (all, <em>p</em> &lt; 0.002). Furthermore, miR-126-3p and − 223-3p were significantly correlated with 2-h insulin (both, <em>p</em> &lt; 0.029) and alanine transaminase (both, <em>p</em> &lt; 0.021). There were no significant differences in target miRNAs expression by BMI categories. Age and gender-adjusted regression analysis found no significant associations between the target miRNAs and CMD risk profiles.</div></div><div><h3>Conclusion</h3><div>The expression patterns evaluated in this study appear to have weak associations with fasting glucose and cannot differentiate overweight/obesity status in PLWH. While not promising markers for overweight/obesity in PLWH, these findings remain exploratory, and further investigation is warranted.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102412"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145880291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic insights into nephrotic syndrome through whole exome sequencing of South Indian patients: A pilot study 通过南印度患者的全外显子组测序对肾病综合征的遗传见解:一项初步研究
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-26 DOI: 10.1016/j.genrep.2026.102435
Ragulraja Sivakumar , Panchatcharam Radhakrishnan , Aishwaryalakshmi Muthukannan , Vardhani Thimma Gopalram , Joy Wilson , Karthikeyan Ravi , Vandit Sevak , Sampathkumar Krishnaswamy , Balakrishnan Karuppiah , Jayalakshmi Mariakuttikan
{"title":"Genetic insights into nephrotic syndrome through whole exome sequencing of South Indian patients: A pilot study","authors":"Ragulraja Sivakumar ,&nbsp;Panchatcharam Radhakrishnan ,&nbsp;Aishwaryalakshmi Muthukannan ,&nbsp;Vardhani Thimma Gopalram ,&nbsp;Joy Wilson ,&nbsp;Karthikeyan Ravi ,&nbsp;Vandit Sevak ,&nbsp;Sampathkumar Krishnaswamy ,&nbsp;Balakrishnan Karuppiah ,&nbsp;Jayalakshmi Mariakuttikan","doi":"10.1016/j.genrep.2026.102435","DOIUrl":"10.1016/j.genrep.2026.102435","url":null,"abstract":"<div><div>Nephrotic syndrome (NS) contributes significantly to chronic kidney disease (CKD) -related mortality worldwide. Whole Exome Sequencing (WES) was used to identify pathogenic variants associated with NS in a Tamil Nadu patient cohort, with the long-term goal of developing a region-specific diagnostic strategy. The genomic DNA was extracted from 15 patients with proteinuria and 7 healthy controls and subjected to WES. Variants were systematically filtered and annotated against GRCh38 then prioritized using multiple prediction algorithms, including CADD, SIFT, FATHMM, PredictSNP2, and ClinVar annotations. Protein stability effects were evaluated using MUPro and PremPS. The functional consequences of the variant were assessed using PANTHER cSNP. Variant distribution patterns and pathogenicity scores were visualized using multi-parametric scatter plot and genotype heat maps. A total of 266 variants were identified across 59 nuclear genes previously reported to be associated with NS, including 114 non-synonymous substitutions. Integrated computational filtering based on CADD, ClinVar, PredictSNP2, PANTHER score and protein stability, prioritized 14 variants predicted to have deleterious effects. Functional annotation highlighted three variants of particular significance: <em>CUBN</em> (rs139724058), <em>FAT1</em> (rs3733415), and <em>TRPC6</em> (rs36111323). In the present pilot study, we identified genetic variants that may contribute to NS susceptibility in this South Indian cohort. This exploratory study findings provide preliminary candidate variants that may warrant investigation in larger cohorts and functional studies to establish clinical utility and address precision medicine strategies.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102435"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advanced glycation end products enhance human atrial fibroblast activity through activation of interferon/signal transducer and activator of transcription signaling 晚期糖基化终产物通过激活干扰素/信号转导因子和转录信号激活因子增强人心房成纤维细胞活性
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-04 DOI: 10.1016/j.genrep.2025.102423
Tzu-Yu Cheng , Shao-Jung Li , Ting-Wei Lee , Ting-I Lee , Yao-Chang Chen , Yu-Hsun Kao , Satoshi Higa , Pao-Huan Chen , Yi-Jen Chen
{"title":"Advanced glycation end products enhance human atrial fibroblast activity through activation of interferon/signal transducer and activator of transcription signaling","authors":"Tzu-Yu Cheng ,&nbsp;Shao-Jung Li ,&nbsp;Ting-Wei Lee ,&nbsp;Ting-I Lee ,&nbsp;Yao-Chang Chen ,&nbsp;Yu-Hsun Kao ,&nbsp;Satoshi Higa ,&nbsp;Pao-Huan Chen ,&nbsp;Yi-Jen Chen","doi":"10.1016/j.genrep.2025.102423","DOIUrl":"10.1016/j.genrep.2025.102423","url":null,"abstract":"<div><h3>Background</h3><div>Diabetes mellitus and metabolic disorders increase the risk of atrial fibrillation with cardiac electrical and structural remodeling. Advanced glycation end products (AGEs) and their receptor (RAGE) play a critical role in the pathogenesis of diabetes mellitus cardiomyopathy and contribute to atrial fibrogenesis, leading to atrial myopathy. This study elucidated the role of AGEs in atrial fibrogenesis and explored the underlying mechanisms.</div></div><div><h3>Methods</h3><div>Human atrial fibroblasts were treated with AGE–bovine serum albumin (AGE–BSA, 100 μg/mL for 48 h) in the presence or absence of an anti-RAGE neutralizing antibody (RAGE Ab; 5 μg/mL for 48 h). RNA deep sequencing, patch-clamp electrophysiology, and Western blot analyses were performed to assess gene expression, electrical activity, and protein signaling pathways.</div></div><div><h3>Results</h3><div>A total of 40 genes were differentially expressed in AGE-BSA-treated human atrial fibroblasts compared with controls, with 31 genes upregulated and 9 downregulated. A reactome pathway enrichment analysis revealed significant upregulation of pathways related to “Interferon (IFN) alpha/beta signaling,” “Interferon signaling,” “Cytokine signaling in immune system,” “Immune system,” “2′-5′-oligoadenylate synthetase (OAS) antiviral response,” “Interferon-stimulated gene 15 (ISG15) antiviral mechanism,” “Interferon gamma signaling,” and “O-linked glycosylation of mucins” and involvement of the IFN/signal transducer and activator of transcription (STAT)/OAS inflammatory signaling pathways, suggesting that AGE-BSA treatment activated IFN/STAT signaling. Western blot and patch-clamp analyses further demonstrated that AGE treatment activated downstream STAT3/transient receptor potential canonical (TRPC) channel/IP3 receptor signaling and increased TRPC current.</div></div><div><h3>Conclusions</h3><div>AGEs may modulate atrial fibroblast function by activating downstream IFN/STAT signaling pathways and increasing TRPC current activity.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102423"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145973140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomic insight into the glutathione S-transferase gene family in Phenacoccus solenopsis 扶桑绵球菌谷胱甘肽s转移酶基因家族的基因组研究
IF 0.9
Gene Reports Pub Date : 2026-03-01 Epub Date: 2026-01-08 DOI: 10.1016/j.genrep.2026.102427
Qian-Kun Du , Xin-Hua Ding , Wen-Chao Guo , Guo-Qing Li
{"title":"Genomic insight into the glutathione S-transferase gene family in Phenacoccus solenopsis","authors":"Qian-Kun Du ,&nbsp;Xin-Hua Ding ,&nbsp;Wen-Chao Guo ,&nbsp;Guo-Qing Li","doi":"10.1016/j.genrep.2026.102427","DOIUrl":"10.1016/j.genrep.2026.102427","url":null,"abstract":"<div><div>Cotton mealybug <em>Phenacoccus solenopsis</em> damages more than 200 host plant species from &gt;55 families, posing a threat to cotton, vegetables and various other ornamental plants. As a polyphagous herbivore, <em>P. solenopsis</em> is usually exposed to numerous phytochemicals and synthetic pesticides and should develop several countermeasures; among them are the duplication of glutathione S-transferases (GSTs), a major class of detoxifying enzymes. To our surprise, only 9 <em>GST</em> genes were identified from <em>P. solenopsis</em> genome and transcriptome dataset in the current paper. <em>P. solenopsis</em> had fewer <em>PsGST</em> genes among Hemipterans. These <em>PsGST</em> genes were actively transcribed across developmental stages; the average RPKM values of <em>PsGSTd3</em>, <em>PsGSTd1</em> and <em>PsGSTs1</em> ranked in the top 3. All 9 <em>PsGST</em>s are cytosolic, and were classified into delta, epsilon, omega, sigma, and zeta subclasses (3, 3, 1, 1, and 1 respectively). The 9 PsGSTs had an average length of 322 amino acid residues, and mean predicted isoelectric point of 6.27. The majority (7 PsGSTs) were acidic proteins. The mean aliphatic index was 90.76 and a projected grand average of hydropathicity value was negative, suggesting that the 9 PsGSTs were hydrophilic by nature. The 9 <em>PsGST</em>s were widely distributed across 4 chromosomes and a scaffold. Genomic distribution and collinearity analysis did not provide clear evidence for recent expansion in the current genome. We propose that polyphagous <em>P. solenopsis</em> mainly feeds on shoot and avoids most plant xenobiotics. Moreover, the waxy coverage layer surrounding <em>P. solenopsis</em> can obstruct the entry of toxic plant volatiles into the body. Accordingly, <em>GST</em>s have not duplicated during adaptation of the mealybug to various plant hosts.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102427"},"PeriodicalIF":0.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145973143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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